Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:abbreviation |
gptkb:OCA2
|
| gptkbp:affects |
melanin biosynthesis
|
| gptkbp:associatedWith |
increased risk of skin cancer
|
| gptkbp:category |
gptkb:autosomal_recessive_disorder
albinism genodermatosis |
| gptkbp:firstDescribed |
1989
|
| gptkbp:frequency |
1 in 36,000 in the US
|
| gptkbp:hasOrphanetID |
55
|
| gptkbp:ICD-10_code |
gptkb:E70.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:OCA2_gene
|
| gptkbp:OMIM |
203200
|
| gptkbp:prevalence |
most common type of albinism in sub-Saharan Africa
|
| gptkbp:symptom |
nystagmus
photophobia hypopigmentation of eyes hypopigmentation of hair hypopigmentation of skin reduced visual acuity |
| gptkbp:treatment |
regular eye exams
sun protection visual aids |
| gptkbp:bfsParent |
gptkb:OCA2
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Oculocutaneous albinism II
|